De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise - Writzl, Karin; Maver, Ales; Kovačič, Lidija; Martinez-Valero, Paula; Contreras, Laura; Satrustegui, Jorgina; Castori, Marco; Faivre, Laurence; Lapunzina, Pablo; van Kuilenburg, André B.P.; Radović, Slobodanka; Thauvin-Robinet, Christel; et al. (American journal of human genetics, 2017)
Keywords: Adenine - metabolism; Adenosine Triphosphate - metabolism; aging; Aging - genetics; Antiporters - genetics; ATP-Mg/Pi carriers; Bone Diseases, Developmental - genetics; Calcium-Binding Proteins - genetics; Cytosol - metabolism; Female; Fetal Death; Fibroblasts - metabolism; Genetics; Human genetics; Humans; Infant; Infant, Newborn; Life Sciences; lipodystrophy; Male; Membrane Potential, Mitochondrial - genetics; Mitochondria - genetics; Mitochondria - metabolism; Mitochondrial Proteins - genetics; Mitochondrial Proteins - metabolism; Molecular Dynamics Simulation; Mutation - genetics; Oxygen - metabolism; Petty syndrome; Phosphates - metabolism; progeria; progeroid disorder; SCaMC-1; SLC25A24; Syndrome; progeria; progeroid disorder; ATP-Mg/Pi carriers; Petty syndrome; aging; lipodystrophy; SLC25A24; SCaMC-1